#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTRHD1	391356	broad.mit.edu	37	2	25013322	25013322	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:25013322T>G	ENST00000328379.5	-	2	385	c.381A>C	c.(379-381)gaA>gaC	p.E127D	PTRHD1_ENST00000487316.1_5'UTR|CENPO_ENST00000380834.2_5'Flank|CENPO_ENST00000473706.1_5'Flank	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	127						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						GGCCCACTTCTTCCTTGGGGT	0.493																																						ENST00000328379.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(379-381)gaA>gaC		peptidyl-tRNA hydrolase domain containing 1							134.0	121.0	126.0					2																	25013322		2203	4300	6503	SO:0001583	missense	391356				translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity	g.chr2:25013322T>G		CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.381A>C	2.37:g.25013322T>G	ENSP00000330389:p.Glu127Asp					PTRHD1_ENST00000487316.1_5'UTR	p.E127D	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN			2	385	-									Missense_Mutation	SNP	ENST00000328379.5	37	c.381A>C	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881131	0.33255	.	.	ENSG00000184924	ENST00000328379	T	0.11169	2.8	5.08	-1.0	0.10196	Peptidyl-tRNA hydrolase II domain (2);	0.166428	0.52532	D	0.000079	T	0.10766	0.0263	L	0.27053	0.805	0.43246	D	0.995165	D	0.55385	0.971	P	0.54401	0.751	T	0.15925	-1.0420	10	0.15499	T	0.54	-13.2794	10.7946	0.46453	0.0:0.6527:0.0:0.3473	.	127	Q6GMV3	PTRD1_HUMAN	D	127	ENSP00000330389:E127D	ENSP00000330389:E127D	E	-	3	2	PTRHD1	24866826	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.682000	0.25335	-0.052000	0.13311	0.533000	0.62120	GAA		0.493	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663		23	43	23	43	---	---	---	---
SLC4A1AP	22950	broad.mit.edu	37	2	27907927	27907927	+	Silent	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr2:27907927A>G	ENST00000326019.6	+	10	2181	c.1899A>G	c.(1897-1899)gaA>gaG	p.E633E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	633						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGCGTCCAGAACTCCCTCCAA	0.418																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1897-1899)gaA>gaG		solute carrier family 4 (anion exchanger), member 1, adaptor protein							78.0	76.0	77.0					2																	27907927		2203	4300	6503	SO:0001819	synonymous_variant	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27907927A>G		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1899A>G	2.37:g.27907927A>G							p.E633E	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			10	2181	+	Acute lymphoblastic leukemia(172;0.155)		633					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	ENST00000326019.6	37	c.1899A>G	CCDS33166.1																																																																																				0.418	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		4	72	4	72	---	---	---	---
SLC25A38	54977	broad.mit.edu	37	3	39436020	39436020	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:39436020C>T	ENST00000273158.4	+	6	1122	c.745C>T	c.(745-747)Cca>Tca	p.P249S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCTTTATCCACTGAAGTT	0.378																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(745-747)Cca>Tca		solute carrier family 25, member 38							112.0	110.0	110.0					3																	39436020		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39436020C>T	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.745C>T	3.37:g.39436020C>T	ENSP00000273158:p.Pro249Ser						p.P249S	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1122	+			249						Missense_Mutation	SNP	ENST00000273158.4	37	c.745C>T	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.604415	0.46423	.	.	ENSG00000144659	ENST00000273158	T	0.78246	-1.16	5.62	3.71	0.42584	Mitochondrial carrier domain (2);	0.284601	0.37809	N	0.001933	T	0.69006	0.3063	L	0.38175	1.15	0.47737	D	0.999505	B	0.18863	0.031	B	0.27715	0.082	T	0.64076	-0.6492	10	0.30854	T	0.27	-8.4359	12.5029	0.55966	0.3007:0.6993:0.0:0.0	.	249	Q96DW6	S2538_HUMAN	S	249	ENSP00000273158:P249S	ENSP00000273158:P249S	P	+	1	0	SLC25A38	39411024	0.000000	0.05858	0.132000	0.22025	0.847000	0.48162	0.143000	0.16115	1.340000	0.45581	0.655000	0.94253	CCA		0.378	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		38	79	38	79	---	---	---	---
DIRC2	84925	broad.mit.edu	37	3	122545901	122545901	+	Missense_Mutation	SNP	T	T	C	rs192045321		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:122545901T>C	ENST00000261038.5	+	3	1090	c.692T>C	c.(691-693)gTg>gCg	p.V231A		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	231					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATAGAGGCTGTGTTATATGCA	0.378																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(691-693)gTg>gCg		disrupted in renal carcinoma 2							101.0	92.0	95.0					3																	122545901		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545901T>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.692T>C	3.37:g.122545901T>C	ENSP00000261038:p.Val231Ala						p.V231A	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	1090	+			231					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.692T>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438901	0.83885	.	.	ENSG00000138463	ENST00000261038	T	0.58358	0.34	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.050797	0.85682	D	0.000000	T	0.59865	0.2225	L	0.57536	1.79	0.80722	D	1	P	0.52170	0.951	P	0.50109	0.631	T	0.62201	-0.6904	10	0.52906	T	0.07	.	15.5446	0.76086	0.0:0.0:0.0:1.0	.	231	Q96SL1	DIRC2_HUMAN	A	231	ENSP00000261038:V231A	ENSP00000261038:V231A	V	+	2	0	DIRC2	124028591	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.134000	0.77268	2.267000	0.75376	0.529000	0.55759	GTG		0.378	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		28	82	28	82	---	---	---	---
DIRC2	84925	broad.mit.edu	37	3	122545904	122545904	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:122545904T>C	ENST00000261038.5	+	3	1093	c.695T>C	c.(694-696)tTa>tCa	p.L232S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	232					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAGGCTGTGTTATATGCAGGT	0.383																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(694-696)tTa>tCa		disrupted in renal carcinoma 2							97.0	89.0	92.0					3																	122545904		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545904T>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.695T>C	3.37:g.122545904T>C	ENSP00000261038:p.Leu232Ser						p.L232S	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	1093	+			232					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.695T>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627935	0.87560	.	.	ENSG00000138463	ENST00000261038	T	0.60920	0.15	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.255560	0.37906	N	0.001898	T	0.67822	0.2934	L	0.54323	1.7	0.44345	D	0.997239	D	0.60160	0.987	P	0.56916	0.809	T	0.70761	-0.4784	10	0.72032	D	0.01	.	15.5446	0.76086	0.0:0.0:0.0:1.0	.	232	Q96SL1	DIRC2_HUMAN	S	232	ENSP00000261038:L232S	ENSP00000261038:L232S	L	+	2	0	DIRC2	124028594	0.940000	0.31905	0.982000	0.44146	0.995000	0.86356	7.134000	0.77268	2.267000	0.75376	0.529000	0.55759	TTA		0.383	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		27	79	27	79	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195391031	195391031	+	lincRNA	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr3:195391031C>T	ENST00000445430.1	+	0	557									long intergenic non-protein coding RNA 969																		GCGGACACAGCCTCAAGTTTG	0.488																																						ENST00000445430.1																			0																																																			440993							g.chr3:195391031C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195391031C>T														0	557	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.488	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	105	7	105	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52860765	52860765	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:52860765G>C	ENST00000343457.3	-	4	2429	c.2423C>G	c.(2422-2424)tCa>tGa	p.S808*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	808						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATTCCCTGGTGACCTGGGCCA	0.493																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2422-2424)tCa>tGa		leucine rich repeat containing 66							53.0	55.0	54.0					4																	52860765		1883	4108	5991	SO:0001587	stop_gained	339977					integral to membrane		g.chr4:52860765G>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2423C>G	4.37:g.52860765G>C	ENSP00000341944:p.Ser808*						p.S808*	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2429	-			808						Nonsense_Mutation	SNP	ENST00000343457.3	37	c.2423C>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868551	0.72065	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.67	2.87	0.33458	.	0.367288	0.20166	N	0.097849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5128	6.1752	0.20439	0.0968:0.0:0.7206:0.1826	.	.	.	.	X	808	.	ENSP00000341944:S808X	S	-	2	0	LRRC66	52555522	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.581000	0.23819	0.635000	0.30488	0.655000	0.94253	TCA		0.493	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		3	23	3	23	---	---	---	---
METTL14	57721	broad.mit.edu	37	4	119609163	119609163	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:119609163G>T	ENST00000388822.5	+	2	319	c.152G>T	c.(151-153)tGc>tTc	p.C51F	METTL14_ENST00000506780.1_Missense_Mutation_p.A13S			Q9HCE5	MET14_HUMAN	methyltransferase like 14	51					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AGAGAAACTTGCAGGTCAGTC	0.408																																						ENST00000388822.5																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(151-153)tGc>tTc		methyltransferase like 14							75.0	73.0	74.0					4																	119609163		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119609163G>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.152G>T	4.37:g.119609163G>T	ENSP00000373474:p.Cys51Phe					METTL14_ENST00000506780.1_Missense_Mutation_p.A13S	p.C51F			Q9HCE5	MTL14_HUMAN			2	319	+								A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.152G>T	CCDS34053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.59|13.59	2.281422|2.281422	0.40394|0.40394	.|.	.|.	ENSG00000145388|ENSG00000145388	ENST00000506780|ENST00000388822;ENST00000508801	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.089338	.|0.85682	.|N	.|0.000000	T|T	0.29028|0.29028	0.0721|0.0721	N|N	0.22421|0.22421	0.69|0.69	0.26312|0.26312	N|N	0.97781|0.97781	B|B	0.23058|0.26258	0.079|0.145	B|B	0.16289|0.25140	0.015|0.058	T|T	0.09378|0.09378	-1.0677|-1.0677	8|9	0.46703|0.10111	T|T	0.11|0.7	-11.3476|-11.3476	16.0714|16.0714	0.80940|0.80940	0.0:0.1339:0.8661:0.0|0.0:0.1339:0.8661:0.0	.|.	13|51	D6RBL4|Q9HCE5	.|MTL14_HUMAN	S|F	13|51;101	.|.	ENSP00000424111:A13S|ENSP00000373474:C51F	A|C	+|+	1|2	0|0	METTL14|METTL14	119828611|119828611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.785000|4.785000	0.62418|0.62418	2.762000|2.762000	0.94881|0.94881	0.643000|0.643000	0.83706|0.83706	GCA|TGC		0.408	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		10	12	10	12	---	---	---	---
JADE1	79960	broad.mit.edu	37	4	129782991	129782991	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:129782991A>T	ENST00000226319.6	+	9	1394	c.1114A>T	c.(1114-1116)Agg>Tgg	p.R372W	PHF17_ENST00000452328.2_Missense_Mutation_p.R360W|PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCTCACATAGGAAACCCGA	0.557																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1114-1116)Agg>Tgg									105.0	119.0	114.0					4																	129782991		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129782991A>T																												ENST00000226319.6:c.1114A>T	4.37:g.129782991A>T	ENSP00000226319:p.Arg372Trp					PHF17_ENST00000512960.1_Missense_Mutation_p.R372W|PHF17_ENST00000511647.1_Missense_Mutation_p.R372W|PHF17_ENST00000413543.2_Missense_Mutation_p.R372W|PHF17_ENST00000452328.2_Missense_Mutation_p.R360W	p.R372W	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1394	+			372						Missense_Mutation	SNP	ENST00000226319.6	37	c.1114A>T	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	A	8.087	0.773597	0.16051	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.47869	0.99;0.83;0.99;0.99;0.83	5.01	-7.41	0.01392	.	0.366656	0.28803	N	0.014097	T	0.17662	0.0424	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.21360	0.034;0.001;0.012	T	0.18429	-1.0337	9	.	.	.	.	7.5221	0.27635	0.2861:0.5507:0.0616:0.1016	.	360;372;372	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	W	372;372;360;372;372;372	ENSP00000226319:R372W;ENSP00000423737:R372W;ENSP00000388015:R360W;ENSP00000425730:R372W;ENSP00000404211:R372W	.	R	+	1	2	PHF17	130002441	0.219000	0.23619	0.000000	0.03702	0.128000	0.20619	0.715000	0.25822	-1.480000	0.01865	-1.410000	0.01125	AGG		0.557	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			8	135	8	135	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138452054	138452054	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr4:138452054A>C	ENST00000344876.4	-	1	1575	c.1189T>G	c.(1189-1191)Tgt>Ggt	p.C397G	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGAAGCTTACAAACTATTTCT	0.343																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1189-1191)Tgt>Ggt		protocadherin 18							93.0	99.0	97.0					4																	138452054		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452054A>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1189T>G	4.37:g.138452054A>C	ENSP00000355082:p.Cys397Gly					PCDH18_ENST00000412923.2_Missense_Mutation_p.C397G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.C177G|PCDH18_ENST00000510305.1_Intron	p.C397G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1575	-	all_hematologic(180;0.24)		397			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1189T>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110773	0.56398	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.50813	0.73;0.73;0.73	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.000000	0.47455	D	0.000236	T	0.75796	0.3898	H	0.95079	3.62	0.80722	D	1	D;D;D	0.63880	0.98;0.993;0.987	D;P;P	0.66497	0.944;0.908;0.859	T	0.82870	-0.0243	10	0.87932	D	0	.	12.4227	0.55529	0.8601:0.1398:0.0:0.0	.	177;397;397	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	G	397;397;177	ENSP00000355082:C397G;ENSP00000390688:C397G;ENSP00000425903:C177G	ENSP00000355082:C397G	C	-	1	0	PCDH18	138671504	1.000000	0.71417	0.956000	0.39512	0.998000	0.95712	7.263000	0.78421	2.313000	0.78055	0.455000	0.32223	TGT		0.343	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		3	70	3	70	---	---	---	---
CD180	4064	broad.mit.edu	37	5	66479763	66479763	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr5:66479763A>G	ENST00000256447.4	-	3	1065	c.908T>C	c.(907-909)tTg>tCg	p.L303S		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	303					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGTCAGATCCAATTCTTGGAG	0.453																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(907-909)tTg>tCg		CD180 molecule							109.0	105.0	106.0					5																	66479763		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479763A>G	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.908T>C	5.37:g.66479763A>G	ENSP00000256447:p.Leu303Ser						p.L303S	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1065	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	303					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.908T>C	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260066	0.59321	.	.	ENSG00000134061	ENST00000256447	D	0.93076	-3.16	5.22	5.22	0.72569	.	0.000000	0.53938	D	0.000057	D	0.96833	0.8966	M	0.84511	2.7	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.97533	1.0081	10	0.87932	D	0	.	15.2692	0.73686	1.0:0.0:0.0:0.0	.	303	Q99467	CD180_HUMAN	S	303	ENSP00000256447:L303S	ENSP00000256447:L303S	L	-	2	0	CD180	66515519	1.000000	0.71417	0.933000	0.37362	0.618000	0.37518	6.282000	0.72639	2.197000	0.70478	0.528000	0.53228	TTG		0.453	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		25	55	25	55	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83850061	83850061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr6:83850061C>A	ENST00000349129.2	+	23	5614	c.5354C>A	c.(5353-5355)tCa>tAa	p.S1785*	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1785					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTGATTCTTCAGAAAAGATG	0.408																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(5353-5355)tCa>tAa		dopey family member 1							166.0	154.0	158.0					6																	83850061		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83850061C>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5354C>A	6.37:g.83850061C>A	ENSP00000195654:p.Ser1785*					DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.S1766*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.S1776*	p.S1785*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	23	5614	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1785					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.5354C>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	46	12.215140	0.99647	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.47	5.47	0.80525	.	0.065243	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6797	0.95957	0.0:1.0:0.0:0.0	.	.	.	.	X	1785;1766;1766	.	ENSP00000237163:S1766X	S	+	2	0	DOPEY1	83906780	1.000000	0.71417	0.996000	0.52242	0.286000	0.27126	7.445000	0.80570	2.727000	0.93392	0.585000	0.79938	TCA		0.408	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		7	84	7	84	---	---	---	---
TMEM248	55069	broad.mit.edu	37	7	66413640	66413640	+	Silent	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr7:66413640C>T	ENST00000341567.4	+	4	810	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	185						integral component of membrane (GO:0016021)											TCACAGCCTGCATGACCCTCA	0.592																																						ENST00000341567.4																			0											c.(553-555)tgC>tgT		transmembrane protein 248							84.0	57.0	66.0					7																	66413640		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66413640C>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.555C>T	7.37:g.66413640C>T							p.C185C	NM_017994.4	NP_060464.1					4	810	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.555C>T	CCDS5536.1																																																																																				0.592	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		3	36	3	36	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113240989	113240989	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr8:113240989G>T	ENST00000297405.5	-	70	11204	c.10960C>A	c.(10960-10962)Caa>Aaa	p.Q3654K	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3654						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTACCTTTGTTTATAAAGA	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10960-10962)Caa>Aaa		CUB and Sushi multiple domains 3							64.0	70.0	68.0					8																	113240989		2203	4295	6498	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113240989G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10960C>A	8.37:g.113240989G>T	ENSP00000297405:p.Gln3654Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3614K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3485K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3584K	p.Q3654K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			70	11204	-			3654					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10960C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090627	0.94149	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25414	2.11;2.11;2.14;1.8;2.13	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.49253	0.1546	L	0.54323	1.7	0.58432	D	0.999998	D;D;D	0.59767	0.986;0.975;0.971	D;D;P	0.72338	0.977;0.949;0.77	T	0.32534	-0.9903	10	0.54805	T	0.06	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	3485;3654;3614	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3614;3654;2924;3485;3584	ENSP00000345799:Q3614K;ENSP00000297405:Q3654K;ENSP00000341558:Q2924K;ENSP00000412263:Q3485K;ENSP00000343124:Q3584K	ENSP00000297405:Q3654K	Q	-	1	0	CSMD3	113310165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	CAA		0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	63	4	63	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140444626	140444626	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr9:140444626G>C	ENST00000277531.4	-	1	210	c.24C>G	c.(22-24)agC>agG	p.S8R	MRPL41_ENST00000371443.5_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.S8R	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	8					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATACCTGTGGGCTGTCATCTT	0.562																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(22-24)agC>agG		patatin-like phospholipase domain containing 7							124.0	109.0	114.0					9																	140444626		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140444626G>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.24C>G	9.37:g.140444626G>C	ENSP00000277531:p.Ser8Arg					PNPLA7_ENST00000277531.4_Missense_Mutation_p.S8R	p.S8R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	1	360	-	all_cancers(76;0.126)		8					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.24C>G	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185882	0.21870	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000371450	T;T	0.60672	0.17;0.25	3.22	2.31	0.28768	.	1.458410	0.04413	N	0.366316	T	0.50309	0.1608	L	0.47716	1.5	0.09310	N	0.999995	B;B	0.31351	0.32;0.214	B;B	0.25987	0.065;0.029	T	0.44967	-0.9293	10	0.72032	D	0.01	.	6.3713	0.21483	0.1427:0.0:0.8573:0.0	.	8;8	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	8	ENSP00000277531:S8R;ENSP00000384610:S8R	ENSP00000277531:S8R	S	-	3	2	PNPLA7	139564447	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	1.210000	0.32370	0.697000	0.31718	0.555000	0.69702	AGC		0.562	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		25	47	25	47	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97917472	97917472	+	RNA	SNP	C	C	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr10:97917472C>G	ENST00000534948.1	+	0	2250							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GCCTATCAAACAAAATGTATG	0.398																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							107.0	106.0	107.0					10																	97917472		1880	4105	5985			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917472C>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917472C>G										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	2250	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.398	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		27	56	27	56	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123844789	123844789	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr10:123844789G>T	ENST00000369005.1	+	4	3114	c.2774G>T	c.(2773-2775)aGt>aTt	p.S925I	TACC2_ENST00000453444.2_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	925					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTTTGGGAGAGTTCTCTGACA	0.537																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2773-2775)aGt>aTt		transforming, acidic coiled-coil containing protein 2							98.0	98.0	98.0					10																	123844789		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844789G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2774G>T	10.37:g.123844789G>T	ENSP00000358001:p.Ser925Ile					TACC2_ENST00000453444.2_Missense_Mutation_p.S925I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S925I|TACC2_ENST00000334433.3_Missense_Mutation_p.S925I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S925I	p.S925I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3114	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	925					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2774G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390631	0.42410	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03920	3.78;3.76;3.76;3.78;3.76	5.48	0.2	0.15181	.	1.247280	0.05903	N	0.630385	T	0.03651	0.0104	N	0.24115	0.695	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.10450	0.005;0.005;0.005	T	0.47289	-0.9129	10	0.72032	D	0.01	3.3515	1.1519	0.01787	0.2631:0.1415:0.4276:0.1677	.	925;925;925	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	I	925;925;925;925;925;915	ENSP00000358001:S925I;ENSP00000424467:S925I;ENSP00000427618:S925I;ENSP00000334280:S925I;ENSP00000395048:S925I	ENSP00000334280:S925I	S	+	2	0	TACC2	123834779	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.393000	0.07305	-0.009000	0.14296	-0.234000	0.12200	AGT		0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			25	50	25	50	---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105929646	105929646	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:105929646T>C	ENST00000531482.2	-	1	192	c.179A>G	c.(178-180)gAt>gGt	p.D60G	KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000526793.1_Missense_Mutation_p.D60G|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	56	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GATTATTTCATCTTTCATAAT	0.313																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(178-180)gAt>gGt		kelch repeat and BTB (POZ) domain containing 3							91.0	90.0	91.0					11																	105929646		2201	4299	6500	SO:0001583	missense	143879							g.chr11:105929646T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.179A>G	11.37:g.105929646T>C	ENSP00000475836:p.Asp60Gly					KBTBD3_ENST00000531482.2_Missense_Mutation_p.D60G|KBTBD3_ENST00000534815.1_Intron|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D60G	p.D60G	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	2	338	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	56			BTB.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000531482.2	37	c.179A>G		.	.	.	.	.	.	.	.	.	.	T	4.802	0.149172	0.09185	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.67345	-0.26;-0.26	5.7	4.58	0.56647	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.167465	0.64402	D	0.000015	T	0.44891	0.1315	N	0.10782	0.045	0.41702	D	0.9894	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.002	T	0.26360	-1.0105	10	0.19590	T	0.45	.	11.4618	0.50215	0.0:0.0702:0.0:0.9297	.	60;56	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	G	60	ENSP00000436262:D60G;ENSP00000432163:D60G	ENSP00000436262:D60G	D	-	2	0	KBTBD3	105434856	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.854000	0.55949	0.997000	0.38969	0.533000	0.62120	GAT		0.313	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388708.2	NM_152433		16	38	16	38	---	---	---	---
THY1	7070	broad.mit.edu	37	11	119291595	119291595	+	Silent	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:119291595G>A	ENST00000284240.5	-	2	1060	c.21C>T	c.(19-21)atC>atT	p.I7I	USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000498979.2_RNA|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000527590.1_Intron|THY1_ENST00000528522.1_Silent_p.I7I|USP2-AS1_ENST00000500970.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	7					angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GCAGGAGAGCGATGCTGATGG	0.607																																						ENST00000284240.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(19-21)atC>atT		Thy-1 cell surface antigen							201.0	176.0	184.0					11																	119291595		2199	4295	6494	SO:0001819	synonymous_variant	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119291595G>A	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.21C>T	11.37:g.119291595G>A						USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Silent_p.I7I|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000528522.1_Silent_p.I7I|THY1_ENST00000527590.1_Intron|USP2-AS1_ENST00000498979.2_RNA	p.I7I	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	2	1060	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	7					Q16008|Q9NSP1	Silent	SNP	ENST00000284240.5	37	c.21C>T	CCDS8424.1																																																																																				0.607	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		17	143	17	143	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128993409	128993409	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr11:128993409C>T	ENST00000310343.9	-	4	333	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	112					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAAAGTGACCTTTAGTGAAG	0.338																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(334-336)Ggt>Agt		Rho GTPase activating protein 32							96.0	85.0	89.0					11																	128993409		1566	3579	5145	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128993409C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.334G>A	11.37:g.128993409C>T	ENSP00000310561:p.Gly112Ser					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G38S	p.G112S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			4	333	-			112					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.334G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408908	0.83340	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000525234	T;T;T	0.76968	-1.06;-1.06;-1.06	5.55	5.55	0.83447	.	.	.	.	.	D	0.82825	0.5121	L	0.33245	0.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.958;0.984	T	0.83015	-0.0170	9	0.48119	T	0.1	.	18.0611	0.89378	0.0:1.0:0.0:0.0	.	46;112	Q86T64;A7KAX9	.;RHG32_HUMAN	S	112;38;46;86	ENSP00000310561:G112S;ENSP00000432468:G38S;ENSP00000432303:G86S	ENSP00000310561:G112S	G	-	1	0	ARHGAP32	128498619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.770000	0.74990	2.597000	0.87782	0.655000	0.94253	GGT		0.338	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		7	15	7	15	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32562152	32562152	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:32562152C>A	ENST00000345122.3	+	2	2592	c.2277C>A	c.(2275-2277)caC>caA	p.H759Q	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	759					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGTTAAACACAATTTGGATG	0.408																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(2275-2277)caC>caA		Rho GTPase activating protein 5							111.0	106.0	107.0					14																	32562152		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562152C>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2277C>A	14.37:g.32562152C>A	ENSP00000371897:p.His759Gln					ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H759Q|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H759Q	p.H759Q	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2592	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		759					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2277C>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324519	0.10900	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.5	-0.0491	0.13836	.	0.129842	0.64402	N	0.000001	T	0.24353	0.0590	L	0.29908	0.895	0.50632	D	0.999884	B;B	0.21905	0.062;0.037	B;B	0.21917	0.037;0.017	T	0.05305	-1.0893	10	0.22109	T	0.4	.	6.1679	0.20400	0.0:0.4916:0.1186:0.3899	.	759;759	Q13017-2;Q13017	.;RHG05_HUMAN	Q	759	ENSP00000452222:H759Q;ENSP00000441692:H759Q;ENSP00000371897:H759Q;ENSP00000393307:H759Q	ENSP00000371897:H759Q	H	+	3	2	ARHGAP5	31631903	0.993000	0.37304	0.994000	0.49952	0.992000	0.81027	0.381000	0.20619	-0.233000	0.09797	-0.143000	0.13931	CAC		0.408	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		19	77	19	77	---	---	---	---
SSTR1	6751	broad.mit.edu	37	14	38679570	38679570	+	Missense_Mutation	SNP	C	C	T	rs199603499		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:38679570C>T	ENST00000267377.2	+	3	1593	c.976C>T	c.(976-978)Ctc>Ttc	p.L326F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	326					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CTATGGCTTTCTCTCAGACAA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19948	0.0		0.0	False		,,,				2504	0.0					ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(976-978)Ctc>Ttc		somatostatin receptor 1	Octreotide(DB00104)						143.0	135.0	138.0					14																	38679570		2203	4300	6503	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679570C>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.976C>T	14.37:g.38679570C>T	ENSP00000267377:p.Leu326Phe						p.L326F	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1593	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		326						Missense_Mutation	SNP	ENST00000267377.2	37	c.976C>T	CCDS9666.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.24	2.775169	0.49786	.	.	ENSG00000139874	ENST00000267377	T	0.38077	1.16	4.82	4.82	0.62117	.	0.000000	0.52532	D	0.000076	T	0.37705	0.1013	L	0.42245	1.32	0.54753	D	0.999984	B	0.33528	0.416	B	0.37888	0.26	T	0.36768	-0.9734	10	0.72032	D	0.01	.	17.0667	0.86561	0.0:1.0:0.0:0.0	.	326	P30872	SSR1_HUMAN	F	326	ENSP00000267377:L326F	ENSP00000267377:L326F	L	+	1	0	SSTR1	37749321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.450000	0.44943	2.514000	0.84764	0.561000	0.74099	CTC		0.582	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			28	58	28	58	---	---	---	---
WDR73	84942	broad.mit.edu	37	15	85189499	85189499	+	Silent	SNP	A	A	G			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:85189499A>G	ENST00000434634.2	-	6	493	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	145										cervix(1)|large_intestine(1)|lung(1)	3						CCGGGTGCCAATGTGGAGAAG	0.562																																						ENST00000434634.2																			0				cervix(1)|large_intestine(1)|lung(1)	3						c.(433-435)Ttg>Ctg		WD repeat domain 73							58.0	62.0	61.0					15																	85189499		1977	4160	6137	SO:0001819	synonymous_variant	84942							g.chr15:85189499A>G	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.433T>C	15.37:g.85189499A>G						WDR73_ENST00000398528.3_5'UTR	p.L145L	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN			6	493	-			145					Q96JZ1|Q9P0B7	Silent	SNP	ENST00000434634.2	37	c.433T>C	CCDS45339.1																																																																																				0.562	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856		6	32	6	32	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89392695	89392695	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr15:89392695G>C	ENST00000561243.1	+	9	1759	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	ACAN_ENST00000439576.2_Missense_Mutation_p.E587Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q			P16112	PGCA_HUMAN	aggrecan	587	G2-B'.|Link 4. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACACGCCTTGAGCAGTTCAC	0.632																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1759-1761)Gag>Cag		aggrecan							18.0	20.0	19.0					15																	89392695		2079	4192	6271	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89392695G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1759G>C	15.37:g.89392695G>C	ENSP00000453342:p.Glu587Gln					ACAN_ENST00000559004.1_Missense_Mutation_p.E587Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E587Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E587Q|ACAN_ENST00000558207.1_Missense_Mutation_p.E587Q	p.E587Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		10	2133	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		587					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1759G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469481	0.63625	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.08546	3.08;3.08	5.11	4.13	0.48395	.	0.000000	0.32952	N	0.005455	T	0.07773	0.0195	N	0.21545	0.675	0.40273	D	0.978317	P;P;B	0.43788	0.817;0.817;0.268	B;B;B	0.41988	0.372;0.372;0.275	T	0.28138	-1.0053	10	0.51188	T	0.08	-19.218	14.4669	0.67490	0.0:0.1476:0.8524:0.0	.	587;587;587	E7ENV9;E7EX88;Q6PID9	.;.;.	Q	587	ENSP00000387356:E587Q;ENSP00000341615:E587Q	ENSP00000268134:E587Q	E	+	1	0	ACAN	87193699	1.000000	0.71417	0.923000	0.36655	0.844000	0.47949	7.539000	0.82063	2.532000	0.85374	0.655000	0.94253	GAG		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	12	4	12	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72926516	72926516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:72926516G>A	ENST00000580223.1	+	5	816	c.786G>A	c.(784-786)tgG>tgA	p.W262*	OTOP2_ENST00000331427.4_Nonsense_Mutation_p.W262*			Q7RTS6	OTOP2_HUMAN	otopetrin 2	262						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGTCATGTGGAAGAATGTGG	0.577																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(784-786)tgG>tgA		otopetrin 2							194.0	176.0	182.0					17																	72926516		2203	4300	6503	SO:0001587	stop_gained	92736					integral to membrane		g.chr17:72926516G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.786G>A	17.37:g.72926516G>A	ENSP00000463837:p.Trp262*					OTOP2_ENST00000580223.1_Nonsense_Mutation_p.W262*	p.W262*	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			6	878	+	all_lung(278;0.172)|Lung NSC(278;0.207)		262						Nonsense_Mutation	SNP	ENST00000580223.1	37	c.786G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	35	5.474545	0.96291	.	.	ENSG00000183034	ENST00000331427	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3825	19.0323	0.92961	0.0:0.0:1.0:0.0	.	.	.	.	X	262	.	ENSP00000332528:W262X	W	+	3	0	OTOP2	70438111	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.869000	0.99810	2.499000	0.84300	0.558000	0.71614	TGG		0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		121	123	121	123	---	---	---	---
NCCRP1	342897	broad.mit.edu	37	19	39691043	39691043	+	Silent	SNP	G	G	A			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr19:39691043G>A	ENST00000339852.4	+	5	628	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	202	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGCTGCTGGCGGCCGACCGCC	0.672																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(604-606)gcG>gcA		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							66.0	76.0	73.0					19																	39691043		2203	4300	6503	SO:0001819	synonymous_variant	342897				protein catabolic process			g.chr19:39691043G>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.606G>A	19.37:g.39691043G>A							p.A202A	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			5	628	+			202			FBA.		Q6NVV5	Silent	SNP	ENST00000339852.4	37	c.606G>A	CCDS12529.1																																																																																				0.672	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		10	136	10	136	---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39725936	39725936	+	Silent	SNP	T	T	C	rs374999084		TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr20:39725936T>C	ENST00000361337.2	+	10	1057	c.807T>C	c.(805-807)acT>acC	p.T269T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	269					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	ATGAATATACTACCAAGGAAA	0.368			T	NUP98	AML*																																	ENST00000361337.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(805-807)acT>acC		topoisomerase (DNA) I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						75.0	80.0	78.0					20																	39725936		2203	4300	6503	SO:0001819	synonymous_variant	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39725936T>C		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.807T>C	20.37:g.39725936T>C							p.T269T	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN			10	1057	+		Myeloproliferative disorder(115;0.00878)	269					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	c.807T>C	CCDS13312.1																																																																																				0.368	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			28	62	28	62	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061202	38061203	+	Frame_Shift_Ins	INS	-	-	GCGGC			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr14:38061202_38061203insGCGGC	ENST00000250448.2	-	2	847_848	c.786_787insGCCGC	c.(784-789)cgccagfs	p.Q263fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.Q230fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	263					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGCTTCTGGCGGCGCAAGT	0.713																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(784-789)cgccagfs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061202_38061203insGCGGC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.782_786dupGCCGC	14.37:g.38061203_38061207dupGCGGC	ENSP00000250448:p.Gln263fs					FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.Q230fs|FOXA1_ENST00000545425.2_5'UTR	p.Q263fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	847_848	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		263					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Ins	INS	ENST00000250448.2	37	c.786_787insGCCGC	CCDS9665.1																																																																																				0.713	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			5	8	5	8	---	---	---	---
EVPLL	645027	broad.mit.edu	37	17	18286659	18286659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8IG-01A-11D-A364-08	TCGA-KK-A8IG-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	082edbc7-1c72-4487-8603-5f20dd332ac3	ab1b5fbe-db21-4790-94c3-f56579040952	g.chr17:18286659delG	ENST00000399134.4	+	8	1105	c.747delG	c.(745-747)gtgfs	p.V249fs	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	249										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCGCATGGTGGAGCTGCGGC	0.711																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(745-747)gtgfs		envoplakin-like							25.0	32.0	30.0					17																	18286659		691	1591	2282	SO:0001589	frameshift_variant	645027							g.chr17:18286659delG		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.747delG	17.37:g.18286659delG	ENSP00000382086:p.Val249fs					RP1-37N7.1_ENST00000579352.1_RNA	p.V249fs	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			8	1105	+			249					B4DPD4	Frame_Shift_Del	DEL	ENST00000399134.4	37	c.747delG	CCDS45626.1																																																																																				0.711	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		2	4	2	4	---	---	---	---
